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GENATLAS PHENOTYPE |
last update : 18-03-2009 |
Symbol | OSCS |
Location | Xq11.1 |
Name | osteopathia striata congenita with cranial sclerosis |
Corresponding gene | FAM123B |
Main clinical features |
|
Genetic determination | sex linked |
Function/system disorder | osteo-articular |
digestive tract/gastrointestinal | |
Type | disease |
Remark(s) | mutations causative of OSCS result in enhanced WNT signaling (Jenkins 2009) |